C9orf72突变致病的分子机制

发布时间：2018-03-06 22:08

本文选题：Corf　切入点：GGGGCC重复　出处：《武汉大学学报(理学版)》2016年04期 　论文类型：期刊论文

【摘要】：C9orf72突变是导致肌萎缩侧索硬化症和额颞叶痴呆最主要的突变形式,该突变由GGGGCC长重复序列插入C9orf72基因的内含子中造成.该突变有3种致病机制:由C9orf72蛋白表达量降低造成的功能缺失、长重复序列RNA造成的细胞毒性、长重复RNA转录产物造成的细胞毒性.本文就从3个方面综合分析了该突变的分子学致病机制,从RNA和蛋白质代谢以及核仁应激三方面总结了3种致病机制之间的联系,并对该突变致病机制研究遇到的困难和未来发展方向进行了总结和预测.
[Abstract]:The C9orf72 mutation is the main mutation form leading to amyotrophic lateral sclerosis and frontotemporal dementia. The mutation is caused by the insertion of the GGGGCC long repeat into the intron of the C9orf72 gene. The mutation has three pathogenetic mechanisms: the loss of function caused by the reduced expression of the C9orf72 protein, and the cytotoxicity caused by the long repeat RNA. In this paper, the molecular pathogenetic mechanism of this mutation was analyzed from three aspects, and the relationship between RNA and protein metabolism and nucleolar stress was summarized. The difficulties encountered in the study and the future development direction of the mutation were summarized and predicted.
【作者单位】：武汉大学药学院/组合生物合成与新药发现教育部重点实验室;
【基金】：湖北省医学领军人才培养工程
【分类号】：R741

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